Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47544643C>T , CM000668.2:g.47544643C>T | GRCh38 |
| NC_000006.11:g.47512379C>T , CM000668.1:g.47512379C>T | GRCh37 |
| NC_000006.10:g.47620338C>T | NCBI36 |
| NG_008878.1:g.71855C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012120.3:c.357C>T MANE Select | NP_036252.1:p.Tyr119= |
| ENST00000359314.5:c.357C>T MANE Select | ENSP00000352264.5:p.Tyr119= |
| NM_012120.2:c.357C>T | NP_036252.1:p.Tyr119= |
| ENST00000477159.1:n.109C>T | |
| XM_005248976.1:c.357C>T | XP_005249033.1:p.Tyr119= |
| XM_005248977.2:c.357C>T | XP_005249034.1:p.Tyr119= |
| XM_011514449.1:c.210C>T | XP_011512751.1:p.Tyr70= |
| XM_011514449.2:c.210C>T | XP_011512751.1:p.Tyr70= |
| XM_017010641.1:c.357C>T | XP_016866130.1:p.Tyr119= |